Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.67908078A= | CA1917096869 | SIRT1 | c.1123A= (p.Lys375=) c.214A= (p.Lys72=) c.238A= (p.Lys80=) c.970A= (p.Lys324=) c.547A= (p.Lys183=) | |
10 | g.67908078A>C | CA377045434 | SIRT1 | c.1123A>C (p.Lys375Gln) c.214A>C (p.Lys72Gln) c.238A>C (p.Lys80Gln) c.970A>C (p.Lys324Gln) c.547A>C (p.Lys183Gln) | |
10 | g.67908078A>G | CA5521210 | SIRT1 | c.1123A>G (p.Lys375Glu) c.214A>G (p.Lys72Glu) c.238A>G (p.Lys80Glu) c.970A>G (p.Lys324Glu) c.547A>G (p.Lys183Glu) | dbSNP ExAC |
10 | g.67908078A>T | CA377045435 | SIRT1 | c.1123A>T (p.Lys375Ter) c.214A>T (p.Lys72Ter) c.238A>T (p.Lys80Ter) c.970A>T (p.Lys324Ter) c.547A>T (p.Lys183Ter) | |
10 | g.67908079A= | CA1917096870 | SIRT1 | c.1124A= (p.Lys375=) c.215A= (p.Lys72=) c.239A= (p.Lys80=) c.971A= (p.Lys324=) c.548A= (p.Lys183=) | |
10 | g.67908079A>C | CA377045436 | SIRT1 | c.1124A>C (p.Lys375Thr) c.215A>C (p.Lys72Thr) c.239A>C (p.Lys80Thr) c.971A>C (p.Lys324Thr) c.548A>C (p.Lys183Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908079A>G | CA377045438 | SIRT1 | c.1124A>G (p.Lys375Arg) c.215A>G (p.Lys72Arg) c.239A>G (p.Lys80Arg) c.971A>G (p.Lys324Arg) c.548A>G (p.Lys183Arg) | |
10 | g.67908079A>T | CA377045437 | SIRT1 | c.1124A>T (p.Lys375Ile) c.215A>T (p.Lys72Ile) c.239A>T (p.Lys80Ile) c.971A>T (p.Lys324Ile) c.548A>T (p.Lys183Ile) | |
10 | g.67908080A>C | CA377045439 | SIRT1 | c.1125A>C (p.Lys375Asn) c.216A>C (p.Lys72Asn) c.240A>C (p.Lys80Asn) c.972A>C (p.Lys324Asn) c.549A>C (p.Lys183Asn) | ClinVar |
10 | g.67908080A>G | CA469854925 | SIRT1 | c.1125A>G (p.Lys375=) c.216A>G (p.Lys72=) c.240A>G (p.Lys80=) c.972A>G (p.Lys324=) c.549A>G (p.Lys183=) | gnomAD v4 |
10 | g.67908080A>T | CA377045440 | SIRT1 | c.1125A>T (p.Lys375Asn) c.216A>T (p.Lys72Asn) c.240A>T (p.Lys80Asn) c.972A>T (p.Lys324Asn) c.549A>T (p.Lys183Asn) | |
10 | g.67908081T>A | CA377045441 | SIRT1 | c.1126T>A (p.Tyr376Asn) c.217T>A (p.Tyr73Asn) c.241T>A (p.Tyr81Asn) c.973T>A (p.Tyr325Asn) c.550T>A (p.Tyr184Asn) | |
10 | g.67908081T>C | CA377045442 | SIRT1 | c.1126T>C (p.Tyr376His) c.217T>C (p.Tyr73His) c.241T>C (p.Tyr81His) c.973T>C (p.Tyr325His) c.550T>C (p.Tyr184His) | |
10 | g.67908081T>G | CA377045443 | SIRT1 | c.1126T>G (p.Tyr376Asp) c.217T>G (p.Tyr73Asp) c.241T>G (p.Tyr81Asp) c.973T>G (p.Tyr325Asp) c.550T>G (p.Tyr184Asp) | |
10 | g.67908082A>C | CA377045444 | SIRT1 | c.1127A>C (p.Tyr376Ser) c.218A>C (p.Tyr73Ser) c.242A>C (p.Tyr81Ser) c.974A>C (p.Tyr325Ser) c.551A>C (p.Tyr184Ser) | |
10 | g.67908082A>G | CA377045445 | SIRT1 | c.1127A>G (p.Tyr376Cys) c.218A>G (p.Tyr73Cys) c.242A>G (p.Tyr81Cys) c.974A>G (p.Tyr325Cys) c.551A>G (p.Tyr184Cys) | |
10 | g.67908082A>T | CA377045446 | SIRT1 | c.1127A>T (p.Tyr376Phe) c.218A>T (p.Tyr73Phe) c.242A>T (p.Tyr81Phe) c.974A>T (p.Tyr325Phe) c.551A>T (p.Tyr184Phe) | |
10 | g.67908083C>A | CA377045447 | SIRT1 | c.1128C>A (p.Tyr376Ter) c.219C>A (p.Tyr73Ter) c.243C>A (p.Tyr81Ter) c.975C>A (p.Tyr325Ter) c.552C>A (p.Tyr184Ter) | |
10 | g.67908083C>G | CA377045448 | SIRT1 | c.1128C>G (p.Tyr376Ter) c.219C>G (p.Tyr73Ter) c.243C>G (p.Tyr81Ter) c.975C>G (p.Tyr325Ter) c.552C>G (p.Tyr184Ter) | |
10 | g.67908083C>T | CA469854926 | SIRT1 | c.1128C>T (p.Tyr376=) c.219C>T (p.Tyr73=) c.243C>T (p.Tyr81=) c.975C>T (p.Tyr325=) c.552C>T (p.Tyr184=) | |
10 | g.67908084A>C | CA377045450 | SIRT1 | c.1129A>C (p.Lys377Gln) c.220A>C (p.Lys74Gln) c.244A>C (p.Lys82Gln) c.976A>C (p.Lys326Gln) c.553A>C (p.Lys185Gln) | gnomAD v4 |
10 | g.67908084A>G | CA377045451 | SIRT1 | c.1129A>G (p.Lys377Glu) c.220A>G (p.Lys74Glu) c.244A>G (p.Lys82Glu) c.976A>G (p.Lys326Glu) c.553A>G (p.Lys185Glu) | gnomAD v4 |
10 | g.67908084A>T | CA377045449 | SIRT1 | c.1129A>T (p.Lys377Ter) c.220A>T (p.Lys74Ter) c.244A>T (p.Lys82Ter) c.976A>T (p.Lys326Ter) c.553A>T (p.Lys185Ter) | |
10 | g.67908085A>C | CA377045454 | SIRT1 | c.1130A>C (p.Lys377Thr) c.221A>C (p.Lys74Thr) c.245A>C (p.Lys82Thr) c.977A>C (p.Lys326Thr) c.554A>C (p.Lys185Thr) | |
10 | g.67908085A>G | CA377045452 | SIRT1 | c.1130A>G (p.Lys377Arg) c.221A>G (p.Lys74Arg) c.245A>G (p.Lys82Arg) c.977A>G (p.Lys326Arg) c.554A>G (p.Lys185Arg) | dbSNP gnomAD v4 |
10 | g.67908085A>T | CA377045453 | SIRT1 | c.1130A>T (p.Lys377Ile) c.221A>T (p.Lys74Ile) c.245A>T (p.Lys82Ile) c.977A>T (p.Lys326Ile) c.554A>T (p.Lys185Ile) | |
10 | g.67908086A>C | CA377045455 | SIRT1 | c.1131A>C (p.Lys377Asn) c.222A>C (p.Lys74Asn) c.246A>C (p.Lys82Asn) c.978A>C (p.Lys326Asn) c.555A>C (p.Lys185Asn) | |
10 | g.67908086A>G | CA469854928 | SIRT1 | c.1131A>G (p.Lys377=) c.222A>G (p.Lys74=) c.246A>G (p.Lys82=) c.978A>G (p.Lys326=) c.555A>G (p.Lys185=) | |
10 | g.67908086A>T | CA377045456 | SIRT1 | c.1131A>T (p.Lys377Asn) c.222A>T (p.Lys74Asn) c.246A>T (p.Lys82Asn) c.978A>T (p.Lys326Asn) c.555A>T (p.Lys185Asn) | |
10 | g.67908087G>A | CA377045457 | SIRT1 | c.1132G>A (p.Val378Ile) c.223G>A (p.Val75Ile) c.247G>A (p.Val83Ile) c.979G>A (p.Val327Ile) c.556G>A (p.Val186Ile) | |
10 | g.67908087G>C | CA377045458 | SIRT1 | c.1132G>C (p.Val378Leu) c.223G>C (p.Val75Leu) c.247G>C (p.Val83Leu) c.979G>C (p.Val327Leu) c.556G>C (p.Val186Leu) | |
10 | g.67908087G>T | CA377045459 | SIRT1 | c.1132G>T (p.Val378Phe) c.223G>T (p.Val75Phe) c.247G>T (p.Val83Phe) c.979G>T (p.Val327Phe) c.556G>T (p.Val186Phe) | |
10 | g.67908088T>A | CA377045460 | SIRT1 | c.1133T>A (p.Val378Asp) c.224T>A (p.Val75Asp) c.248T>A (p.Val83Asp) c.980T>A (p.Val327Asp) c.557T>A (p.Val186Asp) | |
10 | g.67908088T>C | CA377045461 | SIRT1 | c.1133T>C (p.Val378Ala) c.224T>C (p.Val75Ala) c.248T>C (p.Val83Ala) c.980T>C (p.Val327Ala) c.557T>C (p.Val186Ala) | |
10 | g.67908088T>G | CA377045462 | SIRT1 | c.1133T>G (p.Val378Gly) c.224T>G (p.Val75Gly) c.248T>G (p.Val83Gly) c.980T>G (p.Val327Gly) c.557T>G (p.Val186Gly) | |
10 | g.67908089T>A | CA469854930 | SIRT1 | c.1134T>A (p.Val378=) c.225T>A (p.Val75=) c.249T>A (p.Val83=) c.981T>A (p.Val327=) c.558T>A (p.Val186=) | |
10 | g.67908089T>C | CA469854931 | SIRT1 | c.1134T>C (p.Val378=) c.225T>C (p.Val75=) c.249T>C (p.Val83=) c.981T>C (p.Val327=) c.558T>C (p.Val186=) | |
10 | g.67908089T>G | CA469854932 | SIRT1 | c.1134T>G (p.Val378=) c.225T>G (p.Val75=) c.249T>G (p.Val83=) c.981T>G (p.Val327=) c.558T>G (p.Val186=) | |
10 | g.67908090G>A | CA377045463 | SIRT1 | c.1135G>A (p.Asp379Asn) c.226G>A (p.Asp76Asn) c.250G>A (p.Asp84Asn) c.982G>A (p.Asp328Asn) c.559G>A (p.Asp187Asn) | gnomAD v4 |
10 | g.67908090G>C | CA377045464 | SIRT1 | c.1135G>C (p.Asp379His) c.226G>C (p.Asp76His) c.250G>C (p.Asp84His) c.982G>C (p.Asp328His) c.559G>C (p.Asp187His) | |
10 | g.67908090G>T | CA377045465 | SIRT1 | c.1135G>T (p.Asp379Tyr) c.226G>T (p.Asp76Tyr) c.250G>T (p.Asp84Tyr) c.982G>T (p.Asp328Tyr) c.559G>T (p.Asp187Tyr) | |
10 | g.67908091A= | CA1917096871 | SIRT1 | c.1136A= (p.Asp379=) c.227A= (p.Asp76=) c.251A= (p.Asp84=) c.983A= (p.Asp328=) c.560A= (p.Asp187=) | |
10 | g.67908091A>C | CA5521211 | SIRT1 | c.1136A>C (p.Asp379Ala) c.227A>C (p.Asp76Ala) c.251A>C (p.Asp84Ala) c.983A>C (p.Asp328Ala) c.560A>C (p.Asp187Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.67908091A>G | CA377045466 | SIRT1 | c.1136A>G (p.Asp379Gly) c.227A>G (p.Asp76Gly) c.251A>G (p.Asp84Gly) c.983A>G (p.Asp328Gly) c.560A>G (p.Asp187Gly) | |
10 | g.67908091A>T | CA377045467 | SIRT1 | c.1136A>T (p.Asp379Val) c.227A>T (p.Asp76Val) c.251A>T (p.Asp84Val) c.983A>T (p.Asp328Val) c.560A>T (p.Asp187Val) | |
10 | g.67908092C>A | CA377045468 | SIRT1 | c.1137C>A (p.Asp379Glu) c.228C>A (p.Asp76Glu) c.252C>A (p.Asp84Glu) c.984C>A (p.Asp328Glu) c.561C>A (p.Asp187Glu) | |
10 | g.67908092C>G | CA377045469 | SIRT1 | c.1137C>G (p.Asp379Glu) c.228C>G (p.Asp76Glu) c.252C>G (p.Asp84Glu) c.984C>G (p.Asp328Glu) c.561C>G (p.Asp187Glu) | |
10 | g.67908092C>T | CA469854936 | SIRT1 | c.1137C>T (p.Asp379=) c.228C>T (p.Asp76=) c.252C>T (p.Asp84=) c.984C>T (p.Asp328=) c.561C>T (p.Asp187=) | dbSNP gnomAD v4 |
10 | g.67908093T>A | CA377045470 | SIRT1 | c.1138T>A (p.Cys380Ser) c.229T>A (p.Cys77Ser) c.253T>A (p.Cys85Ser) c.985T>A (p.Cys329Ser) c.562T>A (p.Cys188Ser) | |
10 | g.67908093T>C | CA377045471 | SIRT1 | c.1138T>C (p.Cys380Arg) c.229T>C (p.Cys77Arg) c.253T>C (p.Cys85Arg) c.985T>C (p.Cys329Arg) c.562T>C (p.Cys188Arg) | dbSNP gnomAD v2 |
10 | g.67908093T>G | CA5521212 | SIRT1 | c.1138T>G (p.Cys380Gly) c.229T>G (p.Cys77Gly) c.253T>G (p.Cys85Gly) c.985T>G (p.Cys329Gly) c.562T>G (p.Cys188Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.67908093T= | CA1917096872 | SIRT1 | c.1138T= (p.Cys380=) c.229T= (p.Cys77=) c.253T= (p.Cys85=) c.985T= (p.Cys329=) c.562T= (p.Cys188=) | |
10 | g.67908094G>A | CA377045472 | SIRT1 | c.1139G>A (p.Cys380Tyr) c.230G>A (p.Cys77Tyr) c.254G>A (p.Cys85Tyr) c.986G>A (p.Cys329Tyr) c.563G>A (p.Cys188Tyr) | |
10 | g.67908094G>C | CA377045473 | SIRT1 | c.1139G>C (p.Cys380Ser) c.230G>C (p.Cys77Ser) c.254G>C (p.Cys85Ser) c.986G>C (p.Cys329Ser) c.563G>C (p.Cys188Ser) | dbSNP |
10 | g.67908094G= | CA1917096873 | SIRT1 | c.1139G= (p.Cys380=) c.230G= (p.Cys77=) c.254G= (p.Cys85=) c.986G= (p.Cys329=) c.563G= (p.Cys188=) | |
10 | g.67908094G>T | CA377045474 | SIRT1 | c.1139G>T (p.Cys380Phe) c.230G>T (p.Cys77Phe) c.254G>T (p.Cys85Phe) c.986G>T (p.Cys329Phe) c.563G>T (p.Cys188Phe) | |
10 | g.67908095T>A | CA377045475 | SIRT1 | c.1140T>A (p.Cys380Ter) c.231T>A (p.Cys77Ter) c.255T>A (p.Cys85Ter) c.987T>A (p.Cys329Ter) c.564T>A (p.Cys188Ter) | |
10 | g.67908095T>C | CA208382133 | SIRT1 | c.1140T>C (p.Cys380=) c.231T>C (p.Cys77=) c.255T>C (p.Cys85=) c.987T>C (p.Cys329=) c.564T>C (p.Cys188=) | dbSNP gnomAD v4 |
10 | g.67908095T>G | CA377045476 | SIRT1 | c.1140T>G (p.Cys380Trp) c.231T>G (p.Cys77Trp) c.255T>G (p.Cys85Trp) c.987T>G (p.Cys329Trp) c.564T>G (p.Cys188Trp) | |
10 | g.67908095T= | CA1917096874 | SIRT1 | c.1140T= (p.Cys380=) c.231T= (p.Cys77=) c.255T= (p.Cys85=) c.987T= (p.Cys329=) c.564T= (p.Cys188=) | |
10 | g.67908096G>A | CA377045479 | SIRT1 | c.1141G>A (p.Glu381Lys) c.232G>A (p.Glu78Lys) c.256G>A (p.Glu86Lys) c.988G>A (p.Glu330Lys) c.565G>A (p.Glu189Lys) | |
10 | g.67908096G>C | CA377045478 | SIRT1 | c.1141G>C (p.Glu381Gln) c.232G>C (p.Glu78Gln) c.256G>C (p.Glu86Gln) c.988G>C (p.Glu330Gln) c.565G>C (p.Glu189Gln) | |
10 | g.67908096G>T | CA377045477 | SIRT1 | c.1141G>T (p.Glu381Ter) c.232G>T (p.Glu78Ter) c.256G>T (p.Glu86Ter) c.988G>T (p.Glu330Ter) c.565G>T (p.Glu189Ter) | |
10 | g.67908097A>C | CA377045480 | SIRT1 | c.1142A>C (p.Glu381Ala) c.233A>C (p.Glu78Ala) c.257A>C (p.Glu86Ala) c.989A>C (p.Glu330Ala) c.566A>C (p.Glu189Ala) | |
10 | g.67908097A>G | CA377045481 | SIRT1 | c.1142A>G (p.Glu381Gly) c.233A>G (p.Glu78Gly) c.257A>G (p.Glu86Gly) c.989A>G (p.Glu330Gly) c.566A>G (p.Glu189Gly) | |
10 | g.67908097A>T | CA377045482 | SIRT1 | c.1142A>T (p.Glu381Val) c.233A>T (p.Glu78Val) c.257A>T (p.Glu86Val) c.989A>T (p.Glu330Val) c.566A>T (p.Glu189Val) | |
10 | g.67908098A= | CA1917096875 | SIRT1 | c.1143A= (p.Glu381=) c.234A= (p.Glu78=) c.258A= (p.Glu86=) c.990A= (p.Glu330=) c.567A= (p.Glu189=) | |
10 | g.67908098A>C | CA377045483 | SIRT1 | c.1143A>C (p.Glu381Asp) c.234A>C (p.Glu78Asp) c.258A>C (p.Glu86Asp) c.990A>C (p.Glu330Asp) c.567A>C (p.Glu189Asp) | dbSNP |
10 | g.67908098A>G | CA469854939 | SIRT1 | c.1143A>G (p.Glu381=) c.234A>G (p.Glu78=) c.258A>G (p.Glu86=) c.990A>G (p.Glu330=) c.567A>G (p.Glu189=) | |
10 | g.67908098A>T | CA377045484 | SIRT1 | c.1143A>T (p.Glu381Asp) c.234A>T (p.Glu78Asp) c.258A>T (p.Glu86Asp) c.990A>T (p.Glu330Asp) c.567A>T (p.Glu189Asp) | |
10 | g.67908099G>A | CA377045487 | SIRT1 | c.1144G>A (p.Ala382Thr) c.235G>A (p.Ala79Thr) c.259G>A (p.Ala87Thr) c.991G>A (p.Ala331Thr) c.568G>A (p.Ala190Thr) | gnomAD v4 |
10 | g.67908099G>C | CA377045486 | SIRT1 | c.1144G>C (p.Ala382Pro) c.235G>C (p.Ala79Pro) c.259G>C (p.Ala87Pro) c.991G>C (p.Ala331Pro) c.568G>C (p.Ala190Pro) | dbSNP gnomAD v2 |
10 | g.67908099G= | CA1917096876 | SIRT1 | c.1144G= (p.Ala382=) c.235G= (p.Ala79=) c.259G= (p.Ala87=) c.991G= (p.Ala331=) c.568G= (p.Ala190=) | |
10 | g.67908099G>T | CA377045485 | SIRT1 | c.1144G>T (p.Ala382Ser) c.235G>T (p.Ala79Ser) c.259G>T (p.Ala87Ser) c.991G>T (p.Ala331Ser) c.568G>T (p.Ala190Ser) | |
10 | g.67908100C>A | CA377045488 | SIRT1 | c.1145C>A (p.Ala382Asp) c.236C>A (p.Ala79Asp) c.260C>A (p.Ala87Asp) c.992C>A (p.Ala331Asp) c.569C>A (p.Ala190Asp) | |
10 | g.67908100C= | CA1917096877 | SIRT1 | c.1145C= (p.Ala382=) c.236C= (p.Ala79=) c.260C= (p.Ala87=) c.992C= (p.Ala331=) c.569C= (p.Ala190=) | |
10 | g.67908100C>G | CA377045489 | SIRT1 | c.1145C>G (p.Ala382Gly) c.236C>G (p.Ala79Gly) c.260C>G (p.Ala87Gly) c.992C>G (p.Ala331Gly) c.569C>G (p.Ala190Gly) | dbSNP gnomAD v4 |
10 | g.67908100C>T | CA377045490 | SIRT1 | c.1145C>T (p.Ala382Val) c.236C>T (p.Ala79Val) c.260C>T (p.Ala87Val) c.992C>T (p.Ala331Val) c.569C>T (p.Ala190Val) | |
10 | g.67908101T>A | CA469854942 | SIRT1 | c.1146T>A (p.Ala382=) c.237T>A (p.Ala79=) c.261T>A (p.Ala87=) c.993T>A (p.Ala331=) c.570T>A (p.Ala190=) | |
10 | g.67908101T>C | CA469854943 | SIRT1 | c.1146T>C (p.Ala382=) c.237T>C (p.Ala79=) c.261T>C (p.Ala87=) c.993T>C (p.Ala331=) c.570T>C (p.Ala190=) | |
10 | g.67908101T>G | CA469854945 | SIRT1 | c.1146T>G (p.Ala382=) c.237T>G (p.Ala79=) c.261T>G (p.Ala87=) c.993T>G (p.Ala331=) c.570T>G (p.Ala190=) | |
10 | g.67908102G>A | CA377045491 | SIRT1 | c.1147G>A (p.Val383Ile) c.238G>A (p.Val80Ile) c.262G>A (p.Val88Ile) c.994G>A (p.Val332Ile) c.571G>A (p.Val191Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.67908102G>C | CA5521213 | SIRT1 | c.1147G>C (p.Val383Leu) c.238G>C (p.Val80Leu) c.262G>C (p.Val88Leu) c.994G>C (p.Val332Leu) c.571G>C (p.Val191Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.67908102G= | CA1917096878 | SIRT1 | c.1147G= (p.Val383=) c.238G= (p.Val80=) c.262G= (p.Val88=) c.994G= (p.Val332=) c.571G= (p.Val191=) | |
10 | g.67908102G>T | CA377045492 | SIRT1 | c.1147G>T (p.Val383Leu) c.238G>T (p.Val80Leu) c.262G>T (p.Val88Leu) c.994G>T (p.Val332Leu) c.571G>T (p.Val191Leu) | |
10 | g.67908103T>A | CA377045493 | SIRT1 | c.1148T>A (p.Val383Glu) c.239T>A (p.Val80Glu) c.263T>A (p.Val88Glu) c.995T>A (p.Val332Glu) c.572T>A (p.Val191Glu) | |
10 | g.67908103T>C | CA377045495 | SIRT1 | c.1148T>C (p.Val383Ala) c.239T>C (p.Val80Ala) c.263T>C (p.Val88Ala) c.995T>C (p.Val332Ala) c.572T>C (p.Val191Ala) | |
10 | g.67908103T>G | CA377045494 | SIRT1 | c.1148T>G (p.Val383Gly) c.239T>G (p.Val80Gly) c.263T>G (p.Val88Gly) c.995T>G (p.Val332Gly) c.572T>G (p.Val191Gly) | |
10 | g.67908104A>C | CA469854948 | SIRT1 | c.1149A>C (p.Val383=) c.240A>C (p.Val80=) c.264A>C (p.Val88=) c.996A>C (p.Val332=) c.573A>C (p.Val191=) | |
10 | g.67908104A>G | CA469854950 | SIRT1 | c.1149A>G (p.Val383=) c.240A>G (p.Val80=) c.264A>G (p.Val88=) c.996A>G (p.Val332=) c.573A>G (p.Val191=) | |
10 | g.67908104A>T | CA469854949 | SIRT1 | c.1149A>T (p.Val383=) c.240A>T (p.Val80=) c.264A>T (p.Val88=) c.996A>T (p.Val332=) c.573A>T (p.Val191=) | |
10 | g.67908105C>A | CA469854951 | SIRT1 | c.1150C>A (p.Arg384=) c.241C>A (p.Arg81=) c.265C>A (p.Arg89=) c.997C>A (p.Arg333=) c.574C>A (p.Arg192=) | |
10 | g.67908105C>G | CA377045496 | SIRT1 | c.1150C>G (p.Arg384Gly) c.241C>G (p.Arg81Gly) c.265C>G (p.Arg89Gly) c.997C>G (p.Arg333Gly) c.574C>G (p.Arg192Gly) | |
10 | g.67908105C>T | CA377045497 | SIRT1 | c.1150C>T (p.Arg384Ter) c.241C>T (p.Arg81Ter) c.265C>T (p.Arg89Ter) c.997C>T (p.Arg333Ter) c.574C>T (p.Arg192Ter) | gnomAD v4 COSMIC |
10 | g.67908106G>A | CA377045498 | SIRT1 | c.1151G>A (p.Arg384Gln) c.242G>A (p.Arg81Gln) c.266G>A (p.Arg89Gln) c.998G>A (p.Arg333Gln) c.575G>A (p.Arg192Gln) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908106G>C | CA377045499 | SIRT1 | c.1151G>C (p.Arg384Pro) c.242G>C (p.Arg81Pro) c.266G>C (p.Arg89Pro) c.998G>C (p.Arg333Pro) c.575G>C (p.Arg192Pro) | |
10 | g.67908106G= | CA1917096879 | SIRT1 | c.1151G= (p.Arg384=) c.242G= (p.Arg81=) c.266G= (p.Arg89=) c.998G= (p.Arg333=) c.575G= (p.Arg192=) | |
10 | g.67908106G>T | CA377045500 | SIRT1 | c.1151G>T (p.Arg384Leu) c.242G>T (p.Arg81Leu) c.266G>T (p.Arg89Leu) c.998G>T (p.Arg333Leu) c.575G>T (p.Arg192Leu) | |
10 | g.67908107A>C | CA469854954 | SIRT1 | c.1152A>C (p.Arg384=) c.243A>C (p.Arg81=) c.267A>C (p.Arg89=) c.999A>C (p.Arg333=) c.576A>C (p.Arg192=) | |
10 | g.67908107A>G | CA469854955 | SIRT1 | c.1152A>G (p.Arg384=) c.243A>G (p.Arg81=) c.267A>G (p.Arg89=) c.999A>G (p.Arg333=) c.576A>G (p.Arg192=) | gnomAD v4 |
10 | g.67908107A>T | CA469854957 | SIRT1 | c.1152A>T (p.Arg384=) c.243A>T (p.Arg81=) c.267A>T (p.Arg89=) c.999A>T (p.Arg333=) c.576A>T (p.Arg192=) | |
10 | g.67908108G>A | CA5521214 | SIRT1 | c.1153G>A (p.Gly385Arg) c.244G>A (p.Gly82Arg) c.268G>A (p.Gly90Arg) c.1000G>A (p.Gly334Arg) c.577G>A (p.Gly193Arg) | dbSNP ExAC gnomAD v2 |
10 | g.67908108G>C | CA377045501 | SIRT1 | c.1153G>C (p.Gly385Arg) c.244G>C (p.Gly82Arg) c.268G>C (p.Gly90Arg) c.1000G>C (p.Gly334Arg) c.577G>C (p.Gly193Arg) | |
10 | g.67908108G= | CA1917096880 | SIRT1 | c.1153G= (p.Gly385=) c.244G= (p.Gly82=) c.268G= (p.Gly90=) c.1000G= (p.Gly334=) c.577G= (p.Gly193=) | |
10 | g.67908108G>T | CA377045502 | SIRT1 | c.1153G>T (p.Gly385Ter) c.244G>T (p.Gly82Ter) c.268G>T (p.Gly90Ter) c.1000G>T (p.Gly334Ter) c.577G>T (p.Gly193Ter) | |
10 | g.67908109G>A | CA377045503 | SIRT1 | c.1154G>A (p.Gly385Glu) c.245G>A (p.Gly82Glu) c.269G>A (p.Gly90Glu) c.1001G>A (p.Gly334Glu) c.578G>A (p.Gly193Glu) | |
10 | g.67908109G>C | CA377045504 | SIRT1 | c.1154G>C (p.Gly385Ala) c.245G>C (p.Gly82Ala) c.269G>C (p.Gly90Ala) c.1001G>C (p.Gly334Ala) c.578G>C (p.Gly193Ala) | |
10 | g.67908109G>T | CA377045505 | SIRT1 | c.1154G>T (p.Gly385Val) c.245G>T (p.Gly82Val) c.269G>T (p.Gly90Val) c.1001G>T (p.Gly334Val) c.578G>T (p.Gly193Val) | |
10 | g.67908110A>C | CA469854963 | SIRT1 | c.1155A>C (p.Gly385=) c.246A>C (p.Gly82=) c.270A>C (p.Gly90=) c.1002A>C (p.Gly334=) c.579A>C (p.Gly193=) | |
10 | g.67908110A>G | CA469854964 | SIRT1 | c.1155A>G (p.Gly385=) c.246A>G (p.Gly82=) c.270A>G (p.Gly90=) c.1002A>G (p.Gly334=) c.579A>G (p.Gly193=) | |
10 | g.67908110A>T | CA469854965 | SIRT1 | c.1155A>T (p.Gly385=) c.246A>T (p.Gly82=) c.270A>T (p.Gly90=) c.1002A>T (p.Gly334=) c.579A>T (p.Gly193=) | |
10 | g.67908111del | CA2528789312 | SIRT1 | c.1156del (p.Asp386IlefsTer6) c.247del (p.Asp83IlefsTer6) c.271del (p.Asp91IlefsTer6) c.1003del (p.Asp335IlefsTer6) c.580del (p.Asp194IlefsTer6) | |
10 | g.67908111G>A | CA377045507 | SIRT1 | c.1156G>A (p.Asp386Asn) c.247G>A (p.Asp83Asn) c.271G>A (p.Asp91Asn) c.1003G>A (p.Asp335Asn) c.580G>A (p.Asp194Asn) | gnomAD v4 |
10 | g.67908111G>C | CA377045508 | SIRT1 | c.1156G>C (p.Asp386His) c.247G>C (p.Asp83His) c.271G>C (p.Asp91His) c.1003G>C (p.Asp335His) c.580G>C (p.Asp194His) | |
10 | g.67908111G>T | CA377045506 | SIRT1 | c.1156G>T (p.Asp386Tyr) c.247G>T (p.Asp83Tyr) c.271G>T (p.Asp91Tyr) c.1003G>T (p.Asp335Tyr) c.580G>T (p.Asp194Tyr) | |
10 | g.67908112A= | CA1917096881 | SIRT1 | c.1157A= (p.Asp386=) c.248A= (p.Asp83=) c.272A= (p.Asp91=) c.1004A= (p.Asp335=) c.581A= (p.Asp194=) | |
10 | g.67908112A>C | CA208382150 | SIRT1 | c.1157A>C (p.Asp386Ala) c.248A>C (p.Asp83Ala) c.272A>C (p.Asp91Ala) c.1004A>C (p.Asp335Ala) c.581A>C (p.Asp194Ala) | dbSNP |
10 | g.67908112A>G | CA208382152 | SIRT1 | c.1157A>G (p.Asp386Gly) c.248A>G (p.Asp83Gly) c.272A>G (p.Asp91Gly) c.1004A>G (p.Asp335Gly) c.581A>G (p.Asp194Gly) | dbSNP |
10 | g.67908112A>T | CA377045509 | SIRT1 | c.1157A>T (p.Asp386Val) c.248A>T (p.Asp83Val) c.272A>T (p.Asp91Val) c.1004A>T (p.Asp335Val) c.581A>T (p.Asp194Val) | |
10 | g.67908112_67908113insCC | CA2508700975 | SIRT1 | c.1157_1158insCC (p.Ile387LeufsTer6) c.248_249insCC (p.Ile84LeufsTer6) c.272_273insCC (p.Ile92LeufsTer6) c.1004_1005insCC (p.Ile336LeufsTer6) c.581_582insCC (p.Ile195LeufsTer6) | |
10 | g.67908113T>A | CA377045510 | SIRT1 | c.1158T>A (p.Asp386Glu) c.249T>A (p.Asp83Glu) c.273T>A (p.Asp91Glu) c.1005T>A (p.Asp335Glu) c.582T>A (p.Asp194Glu) | |
10 | g.67908113T>C | CA469854968 | SIRT1 | c.1158T>C (p.Asp386=) c.249T>C (p.Asp83=) c.273T>C (p.Asp91=) c.1005T>C (p.Asp335=) c.582T>C (p.Asp194=) | |
10 | g.67908113T>G | CA377045511 | SIRT1 | c.1158T>G (p.Asp386Glu) c.249T>G (p.Asp83Glu) c.273T>G (p.Asp91Glu) c.1005T>G (p.Asp335Glu) c.582T>G (p.Asp194Glu) | |
10 | g.67908114A= | CA1917096882 | SIRT1 | c.1159A= (p.Ile387=) c.250A= (p.Ile84=) c.274A= (p.Ile92=) c.1006A= (p.Ile336=) c.583A= (p.Ile195=) | |
10 | g.67908114A>C | CA208382155 | SIRT1 | c.1159A>C (p.Ile387Leu) c.250A>C (p.Ile84Leu) c.274A>C (p.Ile92Leu) c.1006A>C (p.Ile336Leu) c.583A>C (p.Ile195Leu) | dbSNP |
10 | g.67908114A>G | CA5521215 | SIRT1 | c.1159A>G (p.Ile387Val) c.250A>G (p.Ile84Val) c.274A>G (p.Ile92Val) c.1006A>G (p.Ile336Val) c.583A>G (p.Ile195Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.67908114A>T | CA377045512 | SIRT1 | c.1159A>T (p.Ile387Phe) c.250A>T (p.Ile84Phe) c.274A>T (p.Ile92Phe) c.1006A>T (p.Ile336Phe) c.583A>T (p.Ile195Phe) | |
10 | g.67908115T>A | CA377045513 | SIRT1 | c.1160T>A (p.Ile387Asn) c.251T>A (p.Ile84Asn) c.275T>A (p.Ile92Asn) c.1007T>A (p.Ile336Asn) c.584T>A (p.Ile195Asn) | |
10 | g.67908115T>C | CA377045515 | SIRT1 | c.1160T>C (p.Ile387Thr) c.251T>C (p.Ile84Thr) c.275T>C (p.Ile92Thr) c.1007T>C (p.Ile336Thr) c.584T>C (p.Ile195Thr) | |
10 | g.67908115T>G | CA377045514 | SIRT1 | c.1160T>G (p.Ile387Ser) c.251T>G (p.Ile84Ser) c.275T>G (p.Ile92Ser) c.1007T>G (p.Ile336Ser) c.584T>G (p.Ile195Ser) | |
10 | g.67908116_67908119del | CA2522152848 | SIRT1 | c.1161_1164del (p.Phe388IlefsTer3) c.252_255del (p.Phe85IlefsTer3) c.276_279del (p.Phe93IlefsTer3) c.1008_1011del (p.Phe337IlefsTer3) c.585_588del (p.Phe196IlefsTer3) | |
10 | g.67908116T>A | CA469854973 | SIRT1 | c.1161T>A (p.Ile387=) c.252T>A (p.Ile84=) c.276T>A (p.Ile92=) c.1008T>A (p.Ile336=) c.585T>A (p.Ile195=) | |
10 | g.67908116T>C | CA469854974 | SIRT1 | c.1161T>C (p.Ile387=) c.252T>C (p.Ile84=) c.276T>C (p.Ile92=) c.1008T>C (p.Ile336=) c.585T>C (p.Ile195=) | |
10 | g.67908116T>G | CA377045516 | SIRT1 | c.1161T>G (p.Ile387Met) c.252T>G (p.Ile84Met) c.276T>G (p.Ile92Met) c.1008T>G (p.Ile336Met) c.585T>G (p.Ile195Met) | |
10 | g.67908117T>A | CA377045517 | SIRT1 | c.1162T>A (p.Phe388Ile) c.253T>A (p.Phe85Ile) c.277T>A (p.Phe93Ile) c.1009T>A (p.Phe337Ile) c.586T>A (p.Phe196Ile) | |
10 | g.67908117T>C | CA377045518 | SIRT1 | c.1162T>C (p.Phe388Leu) c.253T>C (p.Phe85Leu) c.277T>C (p.Phe93Leu) c.1009T>C (p.Phe337Leu) c.586T>C (p.Phe196Leu) | |
10 | g.67908117T>G | CA377045519 | SIRT1 | c.1162T>G (p.Phe388Val) c.253T>G (p.Phe85Val) c.277T>G (p.Phe93Val) c.1009T>G (p.Phe337Val) c.586T>G (p.Phe196Val) | |
10 | g.67908118T>A | CA377045522 | SIRT1 | c.1163T>A (p.Phe388Tyr) c.254T>A (p.Phe85Tyr) c.278T>A (p.Phe93Tyr) c.1010T>A (p.Phe337Tyr) c.587T>A (p.Phe196Tyr) | |
10 | g.67908118T>C | CA377045520 | SIRT1 | c.1163T>C (p.Phe388Ser) c.254T>C (p.Phe85Ser) c.278T>C (p.Phe93Ser) c.1010T>C (p.Phe337Ser) c.587T>C (p.Phe196Ser) | |
10 | g.67908118T>G | CA377045521 | SIRT1 | c.1163T>G (p.Phe388Cys) c.254T>G (p.Phe85Cys) c.278T>G (p.Phe93Cys) c.1010T>G (p.Phe337Cys) c.587T>G (p.Phe196Cys) | |
10 | g.67908119T>A | CA377045523 | SIRT1 | c.1164T>A (p.Phe388Leu) c.255T>A (p.Phe85Leu) c.279T>A (p.Phe93Leu) c.1011T>A (p.Phe337Leu) c.588T>A (p.Phe196Leu) | |
10 | g.67908119T>C | CA469854977 | SIRT1 | c.1164T>C (p.Phe388=) c.255T>C (p.Phe85=) c.279T>C (p.Phe93=) c.1011T>C (p.Phe337=) c.588T>C (p.Phe196=) | |
10 | g.67908119T>G | CA377045524 | SIRT1 | c.1164T>G (p.Phe388Leu) c.255T>G (p.Phe85Leu) c.279T>G (p.Phe93Leu) c.1011T>G (p.Phe337Leu) c.588T>G (p.Phe196Leu) | |
10 | g.67908120A= | CA1917096883 | SIRT1 | c.1165A= (p.Asn389=) c.256A= (p.Asn86=) c.280A= (p.Asn94=) c.1012A= (p.Asn338=) c.589A= (p.Asn197=) | |
10 | g.67908120A>C | CA377045525 | SIRT1 | c.1165A>C (p.Asn389His) c.256A>C (p.Asn86His) c.280A>C (p.Asn94His) c.1012A>C (p.Asn338His) c.589A>C (p.Asn197His) | |
10 | g.67908120A>G | CA377045526 | SIRT1 | c.1165A>G (p.Asn389Asp) c.256A>G (p.Asn86Asp) c.280A>G (p.Asn94Asp) c.1012A>G (p.Asn338Asp) c.589A>G (p.Asn197Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.67908120A>T | CA377045527 | SIRT1 | c.1165A>T (p.Asn389Tyr) c.256A>T (p.Asn86Tyr) c.280A>T (p.Asn94Tyr) c.1012A>T (p.Asn338Tyr) c.589A>T (p.Asn197Tyr) | |
10 | g.67908121A= | CA1917096884 | SIRT1 | c.1166A= (p.Asn389=) c.257A= (p.Asn86=) c.281A= (p.Asn94=) c.1013A= (p.Asn338=) c.590A= (p.Asn197=) | |
10 | g.67908121A>C | CA377045528 | SIRT1 | c.1166A>C (p.Asn389Thr) c.257A>C (p.Asn86Thr) c.281A>C (p.Asn94Thr) c.1013A>C (p.Asn338Thr) c.590A>C (p.Asn197Thr) | |
10 | g.67908121A>G | CA208382162 | SIRT1 | c.1166A>G (p.Asn389Ser) c.257A>G (p.Asn86Ser) c.281A>G (p.Asn94Ser) c.1013A>G (p.Asn338Ser) c.590A>G (p.Asn197Ser) | dbSNP |
10 | g.67908121A>T | CA377045529 | SIRT1 | c.1166A>T (p.Asn389Ile) c.257A>T (p.Asn86Ile) c.281A>T (p.Asn94Ile) c.1013A>T (p.Asn338Ile) c.590A>T (p.Asn197Ile) | |
10 | g.67908122T>A | CA377045530 | SIRT1 | c.1167T>A (p.Asn389Lys) c.258T>A (p.Asn86Lys) c.282T>A (p.Asn94Lys) c.1014T>A (p.Asn338Lys) c.591T>A (p.Asn197Lys) | |
10 | g.67908122T>C | CA469854981 | SIRT1 | c.1167T>C (p.Asn389=) c.258T>C (p.Asn86=) c.282T>C (p.Asn94=) c.1014T>C (p.Asn338=) c.591T>C (p.Asn197=) | |
10 | g.67908122T>G | CA377045531 | SIRT1 | c.1167T>G (p.Asn389Lys) c.258T>G (p.Asn86Lys) c.282T>G (p.Asn94Lys) c.1014T>G (p.Asn338Lys) c.591T>G (p.Asn197Lys) | |
10 | g.67908123C>A | CA377045532 | SIRT1 | c.1168C>A (p.Gln390Lys) c.259C>A (p.Gln87Lys) c.283C>A (p.Gln95Lys) c.1015C>A (p.Gln339Lys) c.592C>A (p.Gln198Lys) | |
10 | g.67908123C>G | CA377045533 | SIRT1 | c.1168C>G (p.Gln390Glu) c.259C>G (p.Gln87Glu) c.283C>G (p.Gln95Glu) c.1015C>G (p.Gln339Glu) c.592C>G (p.Gln198Glu) | |
10 | g.67908123C>T | CA377045534 | SIRT1 | c.1168C>T (p.Gln390Ter) c.259C>T (p.Gln87Ter) c.283C>T (p.Gln95Ter) c.1015C>T (p.Gln339Ter) c.592C>T (p.Gln198Ter) | |
10 | g.67908124A= | CA1917096885 | SIRT1 | c.1169A= (p.Gln390=) c.260A= (p.Gln87=) c.284A= (p.Gln95=) c.1016A= (p.Gln339=) c.593A= (p.Gln198=) | |
10 | g.67908124A>C | CA377045535 | SIRT1 | c.1169A>C (p.Gln390Pro) c.260A>C (p.Gln87Pro) c.284A>C (p.Gln95Pro) c.1016A>C (p.Gln339Pro) c.593A>C (p.Gln198Pro) | |
10 | g.67908124A>G | CA208382166 | SIRT1 | c.1169A>G (p.Gln390Arg) c.260A>G (p.Gln87Arg) c.284A>G (p.Gln95Arg) c.1016A>G (p.Gln339Arg) c.593A>G (p.Gln198Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.67908124A>T | CA377045536 | SIRT1 | c.1169A>T (p.Gln390Leu) c.260A>T (p.Gln87Leu) c.284A>T (p.Gln95Leu) c.1016A>T (p.Gln339Leu) c.593A>T (p.Gln198Leu) | |
10 | g.67908125G>A | CA469854985 | SIRT1 | c.1170G>A (p.Gln390=) c.261G>A (p.Gln87=) c.285G>A (p.Gln95=) c.1017G>A (p.Gln339=) c.594G>A (p.Gln198=) | |
10 | g.67908125G>C | CA377045537 | SIRT1 | c.1170G>C (p.Gln390His) c.261G>C (p.Gln87His) c.285G>C (p.Gln95His) c.1017G>C (p.Gln339His) c.594G>C (p.Gln198His) | dbSNP |
10 | g.67908125G= | CA1917096886 | SIRT1 | c.1170G= (p.Gln390=) c.261G= (p.Gln87=) c.285G= (p.Gln95=) c.1017G= (p.Gln339=) c.594G= (p.Gln198=) | |
10 | g.67908125G>T | CA377045538 | SIRT1 | c.1170G>T (p.Gln390His) c.261G>T (p.Gln87His) c.285G>T (p.Gln95His) c.1017G>T (p.Gln339His) c.594G>T (p.Gln198His) | |
10 | g.67908126G>A | CA377045539 | SIRT1 | c.1170+1G>A (n.1170+1G>A) c.261+1G>A (n.261+1G>A) c.285+1G>A (n.285+1G>A) c.1017+1G>A (n.1017+1G>A) c.594+1G>A (n.594+1G>A) | |
10 | g.67908126G>C | CA377045540 | SIRT1 | c.1170+1G>C (n.1170+1G>C) c.261+1G>C (n.261+1G>C) c.285+1G>C (n.285+1G>C) c.1017+1G>C (n.1017+1G>C) c.594+1G>C (n.594+1G>C) | |
10 | g.67908126G>T | CA377045541 | SIRT1 | c.1170+1G>T (n.1170+1G>T) c.261+1G>T (n.261+1G>T) c.285+1G>T (n.285+1G>T) c.1017+1G>T (n.1017+1G>T) c.594+1G>T (n.594+1G>T) | |
10 | g.67908127T>A | CA377045542 | SIRT1 | c.1170+2T>A (n.1170+2T>A) c.261+2T>A (n.261+2T>A) c.285+2T>A (n.285+2T>A) c.1017+2T>A (n.1017+2T>A) c.594+2T>A (n.594+2T>A) | |
10 | g.67908127T>C | CA377045543 | SIRT1 | c.1170+2T>C (n.1170+2T>C) c.261+2T>C (n.261+2T>C) c.285+2T>C (n.285+2T>C) c.1017+2T>C (n.1017+2T>C) c.594+2T>C (n.594+2T>C) | |
10 | g.67908127T>G | CA377045544 | SIRT1 | c.1170+2T>G (n.1170+2T>G) c.261+2T>G (n.261+2T>G) c.285+2T>G (n.285+2T>G) c.1017+2T>G (n.1017+2T>G) c.594+2T>G (n.594+2T>G) | |
10 | g.67908130_67908132del | CA2788372270 | SIRT1 | c.1170+5_1170+7del (n.1170+5_1170+7del) c.261+5_261+7del (n.261+5_261+7del) c.285+5_285+7del (n.285+5_285+7del) c.1017+5_1017+7del (n.1017+5_1017+7del) c.594+5_594+7del (n.594+5_594+7del) | |
10 | g.67908132T>G | CA2574561393 | SIRT1 | c.1170+7T>G (n.1170+7T>G) c.261+7T>G (n.261+7T>G) c.285+7T>G (n.285+7T>G) c.1017+7T>G (n.1017+7T>G) c.594+7T>G (n.594+7T>G) | |
10 | g.67908134T>A | CA2788372272 | SIRT1 | c.1170+9T>A (n.1170+9T>A) c.261+9T>A (n.261+9T>A) c.285+9T>A (n.285+9T>A) c.1017+9T>A (n.1017+9T>A) c.594+9T>A (n.594+9T>A) | |
10 | g.67908135T>C | CA2609361432 | SIRT1 | c.1170+10T>C (n.1170+10T>C) c.261+10T>C (n.261+10T>C) c.285+10T>C (n.285+10T>C) c.1017+10T>C (n.1017+10T>C) c.594+10T>C (n.594+10T>C) | gnomAD v4 |
10 | g.67908137C>A | CA2609361433 | SIRT1 | c.1170+12C>A (n.1170+12C>A) c.261+12C>A (n.261+12C>A) c.285+12C>A (n.285+12C>A) c.1017+12C>A (n.1017+12C>A) c.594+12C>A (n.594+12C>A) | gnomAD v4 |
10 | g.67908137_67908138insAAAGGAA | CA2540083335 | SIRT1 | c.1170+12_1170+13insAAAGGAA (n.1170+12_1170+13insAAAGGAA) c.261+12_261+13insAAAGGAA (n.261+12_261+13insAAAGGAA) c.285+12_285+13insAAAGGAA (n.285+12_285+13insAAAGGAA) c.1017+12_1017+13insAAAGGAA (n.1017+12_1017+13insAAAGGAA) c.594+12_594+13insAAAGGAA (n.594+12_594+13insAAAGGAA) | |
10 | g.67908138C>A | CA2574561394 | SIRT1 | c.1170+13C>A (n.1170+13C>A) c.261+13C>A (n.261+13C>A) c.285+13C>A (n.285+13C>A) c.1017+13C>A (n.1017+13C>A) c.594+13C>A (n.594+13C>A) | |
10 | g.67908138C= | CA1917096887 | SIRT1 | c.1170+13C= (n.1170+13C=) c.261+13C= (n.261+13C=) c.285+13C= (n.285+13C=) c.1017+13C= (n.1017+13C=) c.594+13C= (n.594+13C=) | |
10 | g.67908138C>T | CA208382173 | SIRT1 | c.1170+13C>T (n.1170+13C>T) c.261+13C>T (n.261+13C>T) c.285+13C>T (n.285+13C>T) c.1017+13C>T (n.1017+13C>T) c.594+13C>T (n.594+13C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908139C>A | CA593897977 | SIRT1 | c.1170+14C>A (n.1170+14C>A) c.261+14C>A (n.261+14C>A) c.285+14C>A (n.285+14C>A) c.1017+14C>A (n.1017+14C>A) c.594+14C>A (n.594+14C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.67908139C= | CA1917096888 | SIRT1 | c.1170+14C= (n.1170+14C=) c.261+14C= (n.261+14C=) c.285+14C= (n.285+14C=) c.1017+14C= (n.1017+14C=) c.594+14C= (n.594+14C=) | |
10 | g.67908139_67908140insTAAAAACAAACAACAT | CA2530683417 | SIRT1 | c.1170+14_1170+15insTAAAAACAAACAACAT (n.1170+14_1170+15insTAAAAACAAACAACAT) c.261+14_261+15insTAAAAACAAACAACAT (n.261+14_261+15insTAAAAACAAACAACAT) c.285+14_285+15insTAAAAACAAACAACAT (n.285+14_285+15insTAAAAACAAACAACAT) c.1017+14_1017+15insTAAAAACAAACAACAT (n.1017+14_1017+15insTAAAAACAAACAACAT) c.594+14_594+15insTAAAAACAAACAACAT (n.594+14_594+15insTAAAAACAAACAACAT) | |
10 | g.67908140A= | CA1917096889 | SIRT1 | c.1170+15A= (n.1170+15A=) c.261+15A= (n.261+15A=) c.285+15A= (n.285+15A=) c.1017+15A= (n.1017+15A=) c.594+15A= (n.594+15A=) | |
10 | g.67908140A>G | CA5521216 | SIRT1 | c.1170+15A>G (n.1170+15A>G) c.261+15A>G (n.261+15A>G) c.285+15A>G (n.285+15A>G) c.1017+15A>G (n.1017+15A>G) c.594+15A>G (n.594+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.67908142A= | CA1917096890 | SIRT1 | c.1170+17A= (n.1170+17A=) c.261+17A= (n.261+17A=) c.285+17A= (n.285+17A=) c.1017+17A= (n.1017+17A=) c.594+17A= (n.594+17A=) | |
10 | g.67908142A>G | CA593897978 | SIRT1 | c.1170+17A>G (n.1170+17A>G) c.261+17A>G (n.261+17A>G) c.285+17A>G (n.285+17A>G) c.1017+17A>G (n.1017+17A>G) c.594+17A>G (n.594+17A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.67908143T>A | CA5521217 | SIRT1 | c.1170+18T>A (n.1170+18T>A) c.261+18T>A (n.261+18T>A) c.285+18T>A (n.285+18T>A) c.1017+18T>A (n.1017+18T>A) c.594+18T>A (n.594+18T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.67908143T= | CA1917096891 | SIRT1 | c.1170+18T= (n.1170+18T=) c.261+18T= (n.261+18T=) c.285+18T= (n.285+18T=) c.1017+18T= (n.1017+18T=) c.594+18T= (n.594+18T=) | |
10 | g.67908144T>A | CA2507548979 | SIRT1 | c.1170+19T>A (n.1170+19T>A) c.261+19T>A (n.261+19T>A) c.285+19T>A (n.285+19T>A) c.1017+19T>A (n.1017+19T>A) c.594+19T>A (n.594+19T>A) | |
10 | g.67908144T>C | CA929510524 | SIRT1 | c.1170+19T>C (n.1170+19T>C) c.261+19T>C (n.261+19T>C) c.285+19T>C (n.285+19T>C) c.1017+19T>C (n.1017+19T>C) c.594+19T>C (n.594+19T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908144T= | CA1917096892 | SIRT1 | c.1170+19T= (n.1170+19T=) c.261+19T= (n.261+19T=) c.285+19T= (n.285+19T=) c.1017+19T= (n.1017+19T=) c.594+19T= (n.594+19T=) | |
10 | g.67908145T>G | CA593897979 | SIRT1 | c.1170+20T>G (n.1170+20T>G) c.261+20T>G (n.261+20T>G) c.285+20T>G (n.285+20T>G) c.1017+20T>G (n.1017+20T>G) c.594+20T>G (n.594+20T>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.67908145T= | CA1917096893 | SIRT1 | c.1170+20T= (n.1170+20T=) c.261+20T= (n.261+20T=) c.285+20T= (n.285+20T=) c.1017+20T= (n.1017+20T=) c.594+20T= (n.594+20T=) | |
10 | g.67908146_67908147del | CA2504207644 | SIRT1 | c.1170+21_1170+22del (n.1170+21_1170+22del) c.261+21_261+22del (n.261+21_261+22del) c.285+21_285+22del (n.285+21_285+22del) c.1017+21_1017+22del (n.1017+21_1017+22del) c.594+21_594+22del (n.594+21_594+22del) | |
10 | g.67908147A= | CA1917096894 | SIRT1 | c.1170+22A= (n.1170+22A=) c.261+22A= (n.261+22A=) c.285+22A= (n.285+22A=) c.1017+22A= (n.1017+22A=) c.594+22A= (n.594+22A=) | |
10 | g.67908147A>C | CA5521218 | SIRT1 | c.1170+22A>C (n.1170+22A>C) c.261+22A>C (n.261+22A>C) c.285+22A>C (n.285+22A>C) c.1017+22A>C (n.1017+22A>C) c.594+22A>C (n.594+22A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.67908148G>A | CA2574561395 | SIRT1 | c.1170+23G>A (n.1170+23G>A) c.261+23G>A (n.261+23G>A) c.285+23G>A (n.285+23G>A) c.1017+23G>A (n.1017+23G>A) c.594+23G>A (n.594+23G>A) | gnomAD v4 |
10 | g.67908149G>A | CA2574561396 | SIRT1 | c.1170+24G>A (n.1170+24G>A) c.261+24G>A (n.261+24G>A) c.285+24G>A (n.285+24G>A) c.1017+24G>A (n.1017+24G>A) c.594+24G>A (n.594+24G>A) | gnomAD v4 |
10 | g.67908149G>T | CA2609361434 | SIRT1 | c.1170+24G>T (n.1170+24G>T) c.261+24G>T (n.261+24G>T) c.285+24G>T (n.285+24G>T) c.1017+24G>T (n.1017+24G>T) c.594+24G>T (n.594+24G>T) | gnomAD v4 |
10 | g.67908151A= | CA1917096895 | SIRT1 | c.1170+26A= (n.1170+26A=) c.261+26A= (n.261+26A=) c.285+26A= (n.285+26A=) c.1017+26A= (n.1017+26A=) c.594+26A= (n.594+26A=) | |
10 | g.67908151A>G | CA929510525 | SIRT1 | c.1170+26A>G (n.1170+26A>G) c.261+26A>G (n.261+26A>G) c.285+26A>G (n.285+26A>G) c.1017+26A>G (n.1017+26A>G) c.594+26A>G (n.594+26A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908151_67908152delinsAT | CA1917096896 | SIRT1 | c.1170+26_1170+27delinsAT (n.1170+26_1170+27delinsAT) c.261+26_261+27delinsAT (n.261+26_261+27delinsAT) c.285+26_285+27delinsAT (n.285+26_285+27delinsAT) c.1017+26_1017+27delinsAT (n.1017+26_1017+27delinsAT) c.594+26_594+27delinsAT (n.594+26_594+27delinsAT) | |
10 | g.67908151_67908152insCCTAAAAACAAACAACATATATATGCT | CA1917096897 | SIRT1 | c.1170+26_1170+27insCCTAAAAACAAACAACATATATATGCT (n.1170+26_1170+27insCCTAAAAACAAACAACATATATATGCT) c.261+26_261+27insCCTAAAAACAAACAACATATATATGCT (n.261+26_261+27insCCTAAAAACAAACAACATATATATGCT) c.285+26_285+27insCCTAAAAACAAACAACATATATATGCT (n.285+26_285+27insCCTAAAAACAAACAACATATATATGCT) c.1017+26_1017+27insCCTAAAAACAAACAACATATATATGCT (n.1017+26_1017+27insCCTAAAAACAAACAACATATATATGCT) c.594+26_594+27insCCTAAAAACAAACAACATATATATGCT (n.594+26_594+27insCCTAAAAACAAACAACATATATATGCT) | dbSNP |
10 | g.67908153del | CA1917096898 | SIRT1 | c.1170+28del (n.1170+28del) c.261+28del (n.261+28del) c.285+28del (n.285+28del) c.1017+28del (n.1017+28del) c.594+28del (n.594+28del) | dbSNP |
10 | g.67908153T>A | CA2574561397 | SIRT1 | c.1170+28T>A (n.1170+28T>A) c.261+28T>A (n.261+28T>A) c.285+28T>A (n.285+28T>A) c.1017+28T>A (n.1017+28T>A) c.594+28T>A (n.594+28T>A) | |
10 | g.67908153T>C | CA929510526 | SIRT1 | c.1170+28T>C (n.1170+28T>C) c.261+28T>C (n.261+28T>C) c.285+28T>C (n.285+28T>C) c.1017+28T>C (n.1017+28T>C) c.594+28T>C (n.594+28T>C) | dbSNP gnomAD v4 |
10 | g.67908153T= | CA1917096899 | SIRT1 | c.1170+28T= (n.1170+28T=) c.261+28T= (n.261+28T=) c.285+28T= (n.285+28T=) c.1017+28T= (n.1017+28T=) c.594+28T= (n.594+28T=) | |
10 | g.67908154G>A | CA929510527 | SIRT1 | c.1170+29G>A (n.1170+29G>A) c.261+29G>A (n.261+29G>A) c.285+29G>A (n.285+29G>A) c.1017+29G>A (n.1017+29G>A) c.594+29G>A (n.594+29G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908154G= | CA1917096900 | SIRT1 | c.1170+29G= (n.1170+29G=) c.261+29G= (n.261+29G=) c.285+29G= (n.285+29G=) c.1017+29G= (n.1017+29G=) c.594+29G= (n.594+29G=) | |
10 | g.67908155T>G | CA1917096902 | SIRT1 | c.1170+30T>G (n.1170+30T>G) c.261+30T>G (n.261+30T>G) c.285+30T>G (n.285+30T>G) c.1017+30T>G (n.1017+30T>G) c.594+30T>G (n.594+30T>G) | dbSNP |
10 | g.67908155T= | CA1917096901 | SIRT1 | c.1170+30T= (n.1170+30T=) c.261+30T= (n.261+30T=) c.285+30T= (n.285+30T=) c.1017+30T= (n.1017+30T=) c.594+30T= (n.594+30T=) | |
10 | g.67908156_67908157delinsTC | CA1917096903 | SIRT1 | c.1170+31_1170+32delinsTC (n.1170+31_1170+32delinsTC) c.261+31_261+32delinsTC (n.261+31_261+32delinsTC) c.285+31_285+32delinsTC (n.285+31_285+32delinsTC) c.1017+31_1017+32delinsTC (n.1017+31_1017+32delinsTC) c.594+31_594+32delinsTC (n.594+31_594+32delinsTC) | |
10 | g.67908157del | CA5521219 | SIRT1 | c.1170+32del (n.1170+32del) c.261+32del (n.261+32del) c.285+32del (n.285+32del) c.1017+32del (n.1017+32del) c.594+32del (n.594+32del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.67908157C>A | CA2609361435 | SIRT1 | c.1170+32C>A (n.1170+32C>A) c.261+32C>A (n.261+32C>A) c.285+32C>A (n.285+32C>A) c.1017+32C>A (n.1017+32C>A) c.594+32C>A (n.594+32C>A) | gnomAD v4 |
10 | g.67908157C>T | CA2574561398 | SIRT1 | c.1170+32C>T (n.1170+32C>T) c.261+32C>T (n.261+32C>T) c.285+32C>T (n.285+32C>T) c.1017+32C>T (n.1017+32C>T) c.594+32C>T (n.594+32C>T) | |
10 | g.67908158A>G | CA2609361436 | SIRT1 | c.1170+33A>G (n.1170+33A>G) c.261+33A>G (n.261+33A>G) c.285+33A>G (n.285+33A>G) c.1017+33A>G (n.1017+33A>G) c.594+33A>G (n.594+33A>G) | gnomAD v4 |
10 | g.67908159dup | CA2609361437 | SIRT1 | c.1170+34dup (n.1170+34dup) c.261+34dup (n.261+34dup) c.285+34dup (n.285+34dup) c.1017+34dup (n.1017+34dup) c.594+34dup (n.594+34dup) | gnomAD v4 |
10 | g.67908160G>C | CA2609361438 | SIRT1 | c.1170+35G>C (n.1170+35G>C) c.261+35G>C (n.261+35G>C) c.285+35G>C (n.285+35G>C) c.1017+35G>C (n.1017+35G>C) c.594+35G>C (n.594+35G>C) | gnomAD v4 |
10 | g.67908162C>A | CA2609361439 | SIRT1 | c.1170+37C>A (n.1170+37C>A) c.261+37C>A (n.261+37C>A) c.285+37C>A (n.285+37C>A) c.1017+37C>A (n.1017+37C>A) c.594+37C>A (n.594+37C>A) | gnomAD v4 |
10 | g.67908162C= | CA1917096904 | SIRT1 | c.1170+37C= (n.1170+37C=) c.261+37C= (n.261+37C=) c.285+37C= (n.285+37C=) c.1017+37C= (n.1017+37C=) c.594+37C= (n.594+37C=) | |
10 | g.67908162C>T | CA667743010 | SIRT1 | c.1170+37C>T (n.1170+37C>T) c.261+37C>T (n.261+37C>T) c.285+37C>T (n.285+37C>T) c.1017+37C>T (n.1017+37C>T) c.594+37C>T (n.594+37C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908164C>G | CA2574561399 | SIRT1 | c.1170+39C>G (n.1170+39C>G) c.261+39C>G (n.261+39C>G) c.285+39C>G (n.285+39C>G) c.1017+39C>G (n.1017+39C>G) c.594+39C>G (n.594+39C>G) | |
10 | g.67908167A= | CA1917096905 | SIRT1 | c.1170+42A= (n.1170+42A=) c.261+42A= (n.261+42A=) c.285+42A= (n.285+42A=) c.1017+42A= (n.1017+42A=) c.594+42A= (n.594+42A=) | |
10 | g.67908167A>T | CA1917096906 | SIRT1 | c.1170+42A>T (n.1170+42A>T) c.261+42A>T (n.261+42A>T) c.285+42A>T (n.285+42A>T) c.1017+42A>T (n.1017+42A>T) c.594+42A>T (n.594+42A>T) | dbSNP gnomAD v4 |
10 | g.67908168A= | CA1917096907 | SIRT1 | c.1170+43A= (n.1170+43A=) c.261+43A= (n.261+43A=) c.285+43A= (n.285+43A=) c.1017+43A= (n.1017+43A=) c.594+43A= (n.594+43A=) | |
10 | g.67908168A>G | CA5521220 | SIRT1 | c.1170+43A>G (n.1170+43A>G) c.261+43A>G (n.261+43A>G) c.285+43A>G (n.285+43A>G) c.1017+43A>G (n.1017+43A>G) c.594+43A>G (n.594+43A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.67908170T>G | CA2609361440 | SIRT1 | c.1170+45T>G (n.1170+45T>G) c.261+45T>G (n.261+45T>G) c.285+45T>G (n.285+45T>G) c.1017+45T>G (n.1017+45T>G) c.594+45T>G (n.594+45T>G) | gnomAD v4 |
10 | g.67908171_67908174delinsATTT | CA1917096908 | SIRT1 | c.1170+46_1170+49delinsATTT (n.1170+46_1170+49delinsATTT) c.261+46_261+49delinsATTT (n.261+46_261+49delinsATTT) c.285+46_285+49delinsATTT (n.285+46_285+49delinsATTT) c.1017+46_1017+49delinsATTT (n.1017+46_1017+49delinsATTT) c.594+46_594+49delinsATTT (n.594+46_594+49delinsATTT) | |
10 | g.67908171_67908175delinsATTTC | CA1917096909 | SIRT1 | c.1170+46_1170+50delinsATTTC (n.1170+46_1170+50delinsATTTC) c.261+46_261+50delinsATTTC (n.261+46_261+50delinsATTTC) c.285+46_285+50delinsATTTC (n.285+46_285+50delinsATTTC) c.1017+46_1017+50delinsATTTC (n.1017+46_1017+50delinsATTTC) c.594+46_594+50delinsATTTC (n.594+46_594+50delinsATTTC) | |
10 | g.67908172T>A | CA667743011 | SIRT1 | c.1170+47T>A (n.1170+47T>A) c.261+47T>A (n.261+47T>A) c.285+47T>A (n.285+47T>A) c.1017+47T>A (n.1017+47T>A) c.594+47T>A (n.594+47T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908172T>G | CA2609361441 | SIRT1 | c.1170+47T>G (n.1170+47T>G) c.261+47T>G (n.261+47T>G) c.285+47T>G (n.285+47T>G) c.1017+47T>G (n.1017+47T>G) c.594+47T>G (n.594+47T>G) | gnomAD v4 |
10 | g.67908172T= | CA1917096912 | SIRT1 | c.1170+47T= (n.1170+47T=) c.261+47T= (n.261+47T=) c.285+47T= (n.285+47T=) c.1017+47T= (n.1017+47T=) c.594+47T= (n.594+47T=) | |
10 | g.67908172_67908174del | CA1917096911 | SIRT1 | c.1170+47_1170+49del (n.1170+47_1170+49del) c.261+47_261+49del (n.261+47_261+49del) c.285+47_285+49del (n.285+47_285+49del) c.1017+47_1017+49del (n.1017+47_1017+49del) c.594+47_594+49del (n.594+47_594+49del) | dbSNP |
10 | g.67908174_67908177del | CA1917096910 | SIRT1 | c.1170+49_1170+52del (n.1170+49_1170+52del) c.261+49_261+52del (n.261+49_261+52del) c.285+49_285+52del (n.285+49_285+52del) c.1017+49_1017+52del (n.1017+49_1017+52del) c.594+49_594+52del (n.594+49_594+52del) | dbSNP |
10 | g.67908178_67908180del | CA2609361442 | SIRT1 | c.1170+53_1170+55del (n.1170+53_1170+55del) c.261+53_261+55del (n.261+53_261+55del) c.285+53_285+55del (n.285+53_285+55del) c.1017+53_1017+55del (n.1017+53_1017+55del) c.594+53_594+55del (n.594+53_594+55del) | gnomAD v4 |
10 | g.67908175C>A | CA2609361443 | SIRT1 | c.1170+50C>A (n.1170+50C>A) c.261+50C>A (n.261+50C>A) c.285+50C>A (n.285+50C>A) c.1017+50C>A (n.1017+50C>A) c.594+50C>A (n.594+50C>A) | gnomAD v4 |
10 | g.67908175C= | CA1917096913 | SIRT1 | c.1170+50C= (n.1170+50C=) c.261+50C= (n.261+50C=) c.285+50C= (n.285+50C=) c.1017+50C= (n.1017+50C=) c.594+50C= (n.594+50C=) | |
10 | g.67908175C>T | CA593897980 | SIRT1 | c.1170+50C>T (n.1170+50C>T) c.261+50C>T (n.261+50C>T) c.285+50C>T (n.285+50C>T) c.1017+50C>T (n.1017+50C>T) c.594+50C>T (n.594+50C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.67908175_67908217delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT | CA1917096914 | SIRT1 | c.1170+50_1170+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT (n.1170+50_1170+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT) c.261+50_261+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT (n.261+50_261+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT) c.285+50_285+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT (n.285+50_285+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT) c.1017+50_1017+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT (n.1017+50_1017+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT) c.594+50_594+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT (n.594+50_594+92delinsCTTCTTTTGCCTCAAAATCCTTTTTTACCCCTTTAAAGTATAT) | |
10 | g.67908176_67908217del | CA1917096915 | SIRT1 | c.1170+51_1170+92del (n.1170+51_1170+92del) c.261+51_261+92del (n.261+51_261+92del) c.285+51_285+92del (n.285+51_285+92del) c.1017+51_1017+92del (n.1017+51_1017+92del) c.594+51_594+92del (n.594+51_594+92del) | dbSNP |
10 | g.67908178C>A | CA667743015 | SIRT1 | c.1170+53C>A (n.1170+53C>A) c.261+53C>A (n.261+53C>A) c.285+53C>A (n.285+53C>A) c.1017+53C>A (n.1017+53C>A) c.594+53C>A (n.594+53C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.67908178C= | CA1917096916 | SIRT1 | c.1170+53C= (n.1170+53C=) c.261+53C= (n.261+53C=) c.285+53C= (n.285+53C=) c.1017+53C= (n.1017+53C=) c.594+53C= (n.594+53C=) |